Genomes and Genes
Gene Symbol: mevalonate kinase
Description: mevalonate kinase
Alias: LRBP, MVLK, POROK3, mevalonate kinase, LH receptor mRNA-binding protein, mevalonate kinase 1
Publications185 found, 100 shown here
- Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutationFlorian Hoffmann
Department of Infectious Diseases and Immunology, Children s Hospital, University of Munich, Germany
Eur J Hum Genet 13:510-2. 2005..syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK)...
- Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL Cuisset
Génétique et physiopathologie des maladies inflammatoires héréditaires, Institut Cochin de Génétique Moléculaire and Hôpital Cochin, Assistance Publique Hopitaux de Paris, Paris, France
Eur J Hum Genet 9:260-6. 2001..We recently demonstrated that mutations in the mevalonate kinase gene (MVK) are associated with HIDS...
- Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndromeSander M Houten
Departments of Paediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Hum Mol Genet 11:3115-24. 2002..Both syndromes are caused by specific mutations in the gene encoding mevalonate kinase (MK), resulting in a depressed enzymatic activity mainly due to reduced protein levels...
- Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patientsSander M Houten
Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam 1100 DE, The Netherlands
J Biol Chem 278:5736-43. 2003..MA) and hyper-IgD and periodic fever syndrome (HIDS) are two inherited disorders both caused by depressed mevalonate kinase (MK) activity...
- Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndromeW Ammouri
Department of Internal Medicine, Tenon Hospital, Paris, France
Rheumatology (Oxford) 46:1597-600. 2007..Since the discovery of the mevalonate kinase gene (MVK) gene encoding the mevalonate kinase enzyme, most patients with a clinical diagnostic of HIDS are ..
- The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic feverMassimo Ferretti
Interdisciplinary Research Centre of Autoimmune Diseases, and University of Eastern Piedmont, Novara, Italy
Arthritis Rheum 60:3476-84. 2009....
- Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndromeJeroen C H van der Hilst
Department of General Internal Medicine, Radboud University Nijmegen, Medical Centre, Nijmegen, The Netherlands
Medicine (Baltimore) 87:301-10. 2008..fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK)...
- Mechanism of scandium ion catalyzed Diels-Alder reaction of anthracenes with methyl vinyl ketoneShunichi Fukuzumi
Department of Material and Life Science, Graduate School of Engineering, Osaka University, SORST, Japan Science and Technology Corporation JST, Suita, Osaka 565 0871, Japan
J Phys Chem A 109:3174-81. 2005..This indicates that the Sc(OTf)3-catalyzed Diels-Alder reactions of anthracenes with MVK does not proceed via an electron-transfer process from anthracences to the MVK-Sc(OTf)3 complex...
- FSH and FOXO1 regulate genes in the sterol/steroid and lipid biosynthetic pathways in granulosa cellsZhilin Liu
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
Mol Endocrinol 23:649-61. 2009..Collectively, these data provide novel evidence that FOXO1 may play a key role in granulosa cells to modulate lipid and sterol biosynthesis, thereby preventing elevated steroidogenesis during early stages of follicle development...
- Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiencySaskia H L Mandey
Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Hum Mutat 27:796-802. 2006b>Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK)...
- Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVKMarie P Fogarty
Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA
Hum Mol Genet 19:1921-9. 2010..locus contains at least two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate kinase (MVK)...
- Fitting the two-stage model of carcinogenesis to nested case-control data on the Colorado Plateau uranium miners: dependence on data assumptionsRichard G E Haylock
National Radiological Protection Board, Chilton Didcot, Oxon OX11 0RQ, UK
Radiat Environ Biophys 42:257-63. 2004....
- A catalytic method for the preparation of polysubstituted cyclopentanes: [3+2] cycloaddition of vinylidenecyclopropanes with activated olefins catalyzed by triflic imideWei Li
State Key Laboratory of Organometallic Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, 354 Fenglin Lu, Shanghai 200032, China
J Org Chem 74:856-60. 2009....
- Universality of J-shaped and U-shaped dose-response relations as emergent properties of stochastic transition systemsLouis Anthony Tony Cox
Cox Associates and University of Colorado, 503 Franklin Street, Denver, CO 80218, USA
Dose Response 3:353-68. 2006..With cytotoxicity present, U-shaped as well as J-shaped dose-response curves can emerge. These results are universal, i.e., independent of specific biological details represented by the stochastic transition networks...
- [Contribution of isoprene emitted from vegetable to atmospheric formaldehyde in the ambient air of Beijing city]Yu Jie Zhang
Research Center of Eco environmental Sciences, Chinese Academy of Sciences, Beijing 100085, China
Huan Jing Ke Xue 30:976-81. 2009..Therefore, the biogenic isoprene is an important source to local photo-oxidant formation in Beijing and should be considered of...
- The infevers autoinflammatory mutation online registry: update with new genes and functionsFlorian Milhavet
Institut de Genetique Humaine, CNRS UPR1142, Montpellier, France
Hum Mutat 29:803-8. 2008....
- Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndromeKazuki Takada
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Arthritis Rheum 48:2645-51. 2003..D and periodic fever syndrome (HIDS; MIM 260920) is caused by recessive mutations in the mevalonate kinase gene (MVK), which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis...
- Catalytic, asymmetric aza-Baylis-Hillman reaction of N-sulfonated imines with activated olefins by quinidine-derived chiral aminesMin Shi
State Key Laboratory of Organometallic Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai 200032, P R China
Chemistry 11:1794-802. 2005..An effective bifunctional chiral nitrogen Lewis base-Brønsted acid system has been revealed in this type of aza-Baylis-Hillman reaction...
- Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twinsToni Hospach
Department of Pediatric Rheumatology, Children s Hospital, Olgahospital, Bismarckstrasse 8, D 70176 Stuttgart, Germany
Arthritis Rheum 52:3606-10. 2005..b>Mevalonate kinase (MK) activity was deficient in both children, and analysis of the MVK gene revealed compound heterozygosity ..
- Oocyte regulation of metabolic cooperativity between mouse cumulus cells and oocytes: BMP15 and GDF9 control cholesterol biosynthesis in cumulus cellsYou Qiang Su
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Development 135:111-21. 2008..Therefore, oocyte-derived paracrine factors, particularly, BMP15 and GDF9, promote cholesterol biosynthesis in cumulus cells, probably as compensation for oocyte deficiencies in cholesterol production...
- Importance of the nature of α-substituents in pyrrolidine organocatalysts in asymmetric Michael additionsMahendra P Patil
Department of Chemistry, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India
J Org Chem 75:7310-21. 2010..The limitations of commonly employed qualitative propositions, relying on the steric protection of one of the prochiral faces of enamines offered by the bulky α-substituent, are presented...
- Luteinizing hormone receptor mRNA down-regulation is mediated through ERK-dependent induction of RNA binding proteinBindu Menon
Department of Obstetrics Gynecology, University of Michigan Medical School, Ann Arbor, Michigan 48109 0617, USA
Mol Endocrinol 25:282-90. 2011..the ovaries, at least in part, is regulated by a posttranscriptional process mediated by a specific LH receptor mRNA binding protein (LRBP)...
- Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese populationSi Jun Liu
Department of Epidemiology and Biostatistics, Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210029, China
Chin Med J (Engl) 125:801-6. 2012..study in Caucasians revealed that three loci (rs174547 in fatty acid desaturase 1 (FADS1), rs2338104 near mevalonate kinase/methylmalonic aciduria, cobalamin deficiency, cblB type (MVK/MMAB) and rs10468017 near hepatic lipase (LIPC))..
- An ultrasensitive enzymatic method for measuring mevalonic acid in serumTakeshi Matsuoka
Department of Diagnostics, Asahi Kasei Pharma Corporation, 632 1, Mifuku, Izunokuni shi, Shizuoka 410 2321, Japan
J Lipid Res 53:1987-92. 2012..To achieve high specificity, we used mevalonate kinase (MVK) in addition to HMGR...
- Novel mutations causing hyperimmunoglobulin D and periodic fever syndromeAditi Sinha
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
Indian Pediatr 49:583-5. 2012..62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene...
- Gene expression differences induced by equimolar low doses of LH or hCG in combination with FSH in cultured mouse antral folliclesIngrid Segers
Follicle Biology Laboratory, Vrije Universiteit Brussel, Jette, Belgium
J Endocrinol 215:269-80. 2012..Granulosa cells from follicles exposed to HP-hMG showed an enhanced expression level for several genes compared with recombinant gonadotropin exposure, possibly pointing to enhanced cellular activity...
- Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literatureYun Ju Chen
Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan
J Microbiol Immunol Infect 47:550-4. 2014..She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS. ..
- Evolutionary hypothesis of the Mevalonate Kinase DeficiencyJ Vuch
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
Med Hypotheses 80:67-9. 2013b>Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries...
- Asymmetric catalytic aza-Morita-Baylis-Hillman reaction for the synthesis of 3-substituted-3-aminooxindoles with chiral quaternary carbon centersFang Le Hu
Key Laboratory for Advanced Materials and Institute of Fine Chemicals, East China University of Science and Technology, 130 Mei Long Road, Shanghai 200237, PR China
Org Biomol Chem 11:1921-4. 2013..Twenty-eight cases assembled with chiral quaternary stereogenic centers have been examined under convenient systems...
- Current advances in the understanding and treatment of mevalonate kinase deficiencyS Esposito
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Universit and x00E0 degli Studi di Milano, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
Int J Immunopathol Pharmacol 27:491-8. 2014b>Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically have an early onset in infancy...
- A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiencySandra Berody
Department of Pediatric Rheumatology, National referral centre for auto inflammatory diseases CEREMAI, CHU de Bicetre, AP HP, Le Kremlin Bicetre, France
Joint Bone Spine 82:240-4. 2015b>Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene...
- Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patientsDaša Perko
Department of Allergology, Rheumatology and Clinical Immunology, University Children s Hospital, University Medical Center, Bohoriceva 20, 1000 Ljubljana, Slovenia
Mediators Inflamm 2015:293417. 2015..Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture. ..
- Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activityLukas Reitzle
Department of Molecular Pediatrics, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich 80337, Germany
Clin Biochem 48:781-7. 2015b>Mevalonate kinase deficiency, a rare autosomal recessive autoinflammatory disease, is caused by mutations in the MVK gene encoding mevalonate kinase (MK)...
- Contents of therapeutic metabolites in Swertia chirayita correlate with the expression profiles of multiple genes in corresponding biosynthesis pathwaysJibesh Kumar Padhan
Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat 173234, Solan, Himachal Pradesh, India
Phytochemistry 116:38-47. 2015..The study does provide leads on potential candidate genes correlating with the metabolites biosynthesis in S. chirayita as an initiative towards its genetic improvement. ..
- miR-122 Regulates LH Receptor Expression by Activating Sterol Response Element Binding Protein in Rat OvariesBindu Menon
Departments of Obstetrics Gynecology and Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48109 0617
Endocrinology 156:3370-80. 2015..through a posttranscriptional mechanism involving an RNA binding protein designated as LHR mRNA binding protein (LRBP). miR-122, a short noncoding RNA, has been shown to mediate the up-regulation of LRBP...
- Genomic variations of the mevalonate pathway in porokeratosisZhenghua Zhang
Department of Dermatology, Huashan Hospital, Shanghai Medical College of Fudan University, Shanghai, China
elife 4:e06322. 2015....
- Negative Feedbacks by Isoprenoids on a Mevalonate Kinase Expressed in the Corpora Allata of MosquitoesPratik Nyati
Department of Biological Sciences, Florida International University, Miami, FL, 33199, United States of America
PLoS ONE 10:e0143107. 2015..b>Mevalonate kinase (MVK) is a key enzyme in the MVAP...
- Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosisYing Liu
Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China
Clin Chim Acta 454:124-9. 2016..A 50% probability of detecting a MVK mutation in six DSAP sporadic cases indicated that the MVK gene was useful for clinical characterization, genetic counseling and prenatal diagnosis of DSAP. ..
- Putative modifier genes in mevalonate kinase deficiencyAnnalisa Marcuzzi
Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste I 34137, Italy
Mol Med Rep 13:3181-9. 2016b>Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway...
- Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)Laurent Messer
Service de Rhumatologie, Hôpitaux Civils De Colmar, Colmar, France
RMD Open 2:e000196. 2016b>Mevalonate kinase (MVK) deficiency is a rare autosomal recessive auto-inflammatory disorder characterised by recurring episodes of fever associated with multiple non-specific inflammatory symptoms and caused by mutations in the MVK gene...
- Carbonyl Compounds in the Gas Phase of Cigarette Mainstream Smoke and Their Pharmacological PropertiesTakahiro Horinouchi
Department of Cellular Pharmacology, Hokkaido University Graduate School of Medicine
Biol Pharm Bull 39:909-14. 2016..Thus pharmacological modulation of PKC and NOX activities and the trapping of ROS are potential strategies for the prevention of diseases related to cigarette smoking. ..
- Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDSYong Hwan Park
Inflammatory Disease Section, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Immunol 17:914-21. 2016Mutations in the genes encoding pyrin and mevalonate kinase (MVK) cause distinct interleukin-1β (IL-1β)-mediated autoinflammatory diseases: familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS)...
- Molecular Cloning, Characterization, and Functional Analysis of Acetyl-CoA C-Acetyltransferase and Mevalonate Kinase Genes Involved in Terpene Trilactone Biosynthesis from Ginkgo bilobaQiangwen Chen
College of Horticulture and Gardening, Yangtze University, Jingzhou 434025, Hubei, China
Molecules 22:. 2017..in the mevalonate (MVA) biosynthetic pathway include acetyl-CoA C-acetyltransferase (AACT) and mevalonate kinase (MVK) as core enzymes...
- New auxiliaries for copper-catalyzed asymmetric Michael reactions: generation of quaternary stereocenters at room temperatureJ Christoffers
Institut fur Organische Chemie, Universitat Stuttgart, Germany
Chemistry 7:1014-27. 2001..The exclusion of moisture or oxygen is not necessary. The auxiliaries 2 are readily available by standard procedures. After workup they can be recovered almost quantitatively...
- Synthesis and relative stability of 3,5-diacyl-4,5-dihydro-1H-pyrazoles prepared by dipolar cycloaddition of enones and alpha-diazoketonesMichael E Jung
Department of Chemistry and Biochemistry, University of California, Los Angeles, 405 Hilgard Avenue, Los Angeles, California 90095 1569, USA
J Org Chem 69:9085-9. 2004..Thus we have discovered a novel fragmentation-cycloaddition process. We have also presented evidence for the mechanism of the formation of the dihydropyrazoles and carried out calculations to support these findings...
- Pressure dependence in the methyl vinyl ketone + OH and methacrolein + OH oxidation reactions: an electronic structure studyMontserrat Ochando-Pardo
Departament de Química Física and Institut de Ciència Molecular, Universitat de Valencia, 46100 Burjassot, Spain
Chemphyschem 6:1567-73. 2005..The subtle balance between the different pathways (additions versus abstractions) serves to give an understanding of the pressure dependence of the rate constants of these tropospheric oxidation processes...
- Polymer-supported and polymeric chiral guanidines: preparation and application to the asymmetric Michael reaction of iminoacetate with methyl vinyl ketoneDisadee Wannaporn
Graduate School of Pharmaceutical Sciences, Chiba University, 1 33 Yayoi, Inage, Chiba, 263 8522, Japan
Mol Divers 9:321-31. 2005....
- Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolismCharlotte Murphy
Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, 14186 Stockholm, Sweden
Biochem Biophys Res Commun 355:359-64. 2007b>Mevalonate kinase (MVK) catalyses an early step in cholesterol biosynthesis converting mevalonate to phosphomevalonate...
- Hyper-IgD syndrome with novel mutation in a Japanese girlTakuya Naruto
Department of Pediatrics, Yokohama City University School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama, Kanagawa, 236 0004, Japan
Mod Rheumatol 19:96-9. 2009..This is the first case in which homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation...
- A novel Y331X nonsense mutation in TNFRSF1A gene in two unrelated Turkish families with periodic fever syndromeN Kutukculer
Department of Pediatrics, Ege University, Izmir, Turkey
Int J Immunogenet 37:21-5. 2010..In conclusion, in Turkish patients, with dominantly inherited recurrent fever, TRAPS is a diagnosis worthy of attention and novel mutations have to be reported with phenotype associations...
- No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levelsPedro Marques-Vidal
Centre for Cardiovascular and Metabolic Research Cardiomet, Switzerland
Atherosclerosis 211:551-7. 2010..To assess the relationships and possible interactions between polymorphisms related to HDL levels and alcohol consumption...
- Tributyltin hydride-mediated radical cyclisation reactions: efficient construction of multiply substituted cyclopentanesJie Lei
State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China
Org Biomol Chem 8:2840-4. 2010..Cyclopentane derivatives bearing multiple substituents were efficiently prepared with moderate to excellent diastereoselectivity...
- Radical dependence of the yields of methacrolein and methyl vinyl ketone from the OH-initiated oxidation of isoprene under NO(x)-free conditionsMaria A Navarro
Center for Research in Environmental Science, School of Public and Environmental Affairs, Indiana University, Bloomington, Indiana 47405, United States
Environ Sci Technol 45:923-9. 2011....
- Establishment of a transgenic mouse model with liver-specific expression of secretory immunoglobulin DPing Wang
College of Biological Sciences, China Agricultural University, State Key Laboratories for Agrobiotechnology, Beijing 100193, China
Sci China Life Sci 55:219-27. 2012Mutation of mevalonate kinase (MVK) is thought to account for most cases of hyperimmunoglobulinemia D syndrome (HIDS) with recurrent fever...
- Oligomeric amyloid-β peptide affects the expression of genes involved in steroid and lipid metabolism in primary neuronsBilal Malik
KHP Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF, UK
Neurochem Int 61:321-33. 2012..These new data suggest that Aβ may influence steroid and lipid metabolism in neurons via multiple gene-expression changes...
- Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosisSheng Quan Zhang
Institute of Dermatology and Department of Dermatology, No 1 Hospital, Anhui Medical University, Hefei, Anhui, China
Nat Genet 44:1156-60. 2012..We performed exome sequencing in one unaffected and two affected individuals from a DSAP family. The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering ..
- Mevalonate kinase deficiency, a metabolic autoinflammatory diseaseRobert van der Burgh
Center for Cellular and Molecular Intervention, Division of Pediatrics, University Medical Center Utrecht, The Netherlands
Clin Immunol 147:197-206. 2013b>Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment...
- Investigating the impact of aqueous-phase chemistry and wet deposition on organic aerosol formation using a molecular surrogate modeling approachFlorian Couvidat
CEREA, Joint Laboratory Ecole des Ponts ParisTech EDF R and D, Universite Paris Est, 77455 Marne la Vallée, France
Environ Sci Technol 47:914-22. 2013..Below-cloud scavenging of SOA precursor gases and of gas-phase SVOC was found to affect SOA concentrations by up to 20%, which suggests that it should be taken into account in air quality models...
- Multi-target-directed design, syntheses, and characterization of fluorescent bisphosphonate derivatives as multifunctional enzyme inhibitors in mevalonate pathwayJinbo Gao
Department of Biology and Chemistry, City University of Hong Kong, Kowloon, Hong Kong, People s Republic of China
Biochim Biophys Acta 1830:3635-42. 2013..Four enzymes in mevalonate pathway, including MVK, PMK, MDD, and FPPS, play important regulatory roles in cholesterol biosynthesis and cell proliferation...
- QM/MM investigation on 1,3-dipolar cycloadditions of the phthalazinium dicyanomethanide with three different dipolarophiles on water and in solutionXin Yang
College of Chemistry, Key Lab of Green Chemistry and Technology in Ministry of Education, Sichuan University, Chengdu 610064, People s Republic of China
Phys Chem Chem Phys 15:11846-55. 2013..9 : 0.1 to pure water. New insights into solvent effects for 1,3-dipolar cycloadditions are presented herein. ..
- Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAPWen sheng Lu
Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei, Anhui, 230001, China
Int J Clin Exp Pathol 7:728-32. 2014..Recently, the mevalonate kinase (MVK) gene has been identified as a candidate gene responsible for DSAP and multiple mutations have been ..
- Sulfate radical-initiated formation of isoprene-derived organosulfates in atmospheric aerosolsJ Schindelka
Leibniz Institute for Tropospheric Research, Permoserstr 15, D 04318 Leipzig, Germany
Faraday Discuss 165:237-59. 2013..This study shows that sulfate radical-induced oxidation in the aqueous particle phase provides a reasonable explanation for the formation of these organosulfates from methacrolein and methyl vinyl ketone...
- Splicing mutation in MVK is a cause of porokeratosis of MibelliKang Zeng
Department of Dermatology, Nanfang Hospital, Southern Medical University, 1838 North Guangzhou Avenue, Guangzhou, 510515, Guangdong, China
Arch Dermatol Res 306:749-55. 2014..actinic porokeratosis (DSAP) is the most common subtype of porokeratosis with genetic heterogeneities, and mevalonate kinase gene (MVK) mutations have been identified in minor portion of DSAP families of Chinese origin...
- Mechanistic studies for tri-targeted inhibition of enzymes involved in cholesterol biosynthesis by green tea polyphenolsHu Ge
School of Pharmaceutical Sciences and Institute of Human Virology, Sun Yat Sen University, 132 East Circle Road at University City, Guangzhou, 510006, China
Org Biomol Chem 12:4941-51. 2014..Two distinct binding poses for ECG and EGCG were observed in our MD simulations. These results shed light on the potential for further selective and multi-targeted inhibitor design for the treatment of hyperlipidemia. ..
- A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosisWen sheng Lu
Department of Dermatology, Anhui Provincial Hospital, No 17, Lujiang Road, Hefei, 230001, China
Mol Biol Rep 41:7229-33. 2014..b>mevalonate kinase, (MVK) a gene know to play an important role in regulation of calcium-induced keratinocyte differentiation ..
- Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindredTaha Moussa
Department of Pediatrics, Hamad General Hospital, Doha, Qatar
J Clin Immunol 35:249-53. 2015....
- Next-generation sequencing (NGS) transcriptomes reveal association of multiple genes and pathways contributing to secondary metabolites accumulation in tuberous roots of Aconitum heterophyllum WallTarun Pal
Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat, 173234, Himachal Pradesh, India
Planta 242:239-58. 2015..genes for aconites biosynthesis revealed 4 genes HMGR (3-hydroxy-3-methylglutaryl-CoA reductase), MVK (mevalonate kinase), MVDD (mevalonate diphosphate decarboxylase) and HDS (1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate ..
- Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible LinkPaola Maura Tricarico
Department of Medicine, Surgery and Health Sciences, University of Trieste, Piazzale Europa 1, 34128 Trieste, Italy
Int J Mol Sci 16:16067-84. 2015..This mechanism could play a significant role in Mevalonate Kinase Deficiency, an autoinflammatory disease characterized by a defect in Mevalonate Kinase, a key enzyme of the ..
- In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase DeficiencyClaire Browne
School of Biological Sciences, Queen s University Belfast, Medical Biology Centre, 97 Lisburn Road, Belfast, BT9 7BL, UK
Ann Hum Genet 79:451-9. 2015b>Mevalonate kinase (MVK) catalyses the phosphorylation of mevalonate. Deficiency of MVK is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe form and hyper-immunoglobulin-D syndrome (HIDS), a milder form...
- De novo assembly and comparative analysis of root transcriptomes from different varieties of Panax ginseng C. A. Meyer grown in different environmentsGang Zhen
State Key Laboratory of Protein and Plant Gene Research, College of Life Sciences, Peking University, Beijing, 100871, China
Sci China Life Sci 58:1099-110. 2015..In particular, some key ginsenoside biosynthesis-related genes, including HMG-CoA synthase (HMGS), mevalonate kinase (MVK), and squalene epoxidase (SE), were upregulated in wild-grown ginseng...
- Unique behavior of Trypanosoma cruzi mevalonate kinase: A conserved glycosomal enzyme involved in host cell invasion and signalingEden Ramalho Ferreira
Departamento de Microbiologia, Imunologia e Parasitologia, Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
Sci Rep 6:24610. 2016b>Mevalonate kinase (MVK) is an essential enzyme acting in early steps of sterol isoprenoids biosynthesis, such as cholesterol in humans or ergosterol in trypanosomatids...
- The Relationship between NALP3 and Autoinflammatory SyndromesLorna Campbell
Rheumatology Fellows at University Hospitals Case Medical Center, Cleveland, OH 44106 5076, USA
Int J Mol Sci 17:. 2016..Hyperimmunoglublinemia D syndrome is caused by mevalonate kinase (MVK) deficiency, which may be affected by protein accumulation that leads to NALP3 inflammasome activation...
- Joint toxic effects of the type-2 alkene electrophilesLihai Zhang
Department of Anesthesiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, United States
Chem Biol Interact 254:198-206. 2016..Synergistic effects in biological models might occur when different cellular proteomes are targeted, whereas additive effects develop when the mixtures encompasses a similar proteome. ..
- [Mevalonate kinase deficiency in 2016]C Galeotti
service de rhumatologie pédiatrique, centre de référence des maladies auto inflammatoires, Universite de Paris Sud, CHU de Bicetre, AP HP, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France Unité 1138, Institut National de la Sante et de la Recherche Medicale, 75006 Paris, France Electronic address
Rev Med Interne . 2016b>Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis...
- Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutationsUlrich Kellner
a Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany
Ophthalmic Genet . 2017To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD).
- Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?Isabelle Touitou
Laboratoire de Génétique Moleculaire et Chromosomique, Hopital Arnaud de Villeneuve, Montpellier, France
Am J Pharmacogenomics 4:109-18. 2004..spotlight has been focused for the past two years on periodic fevers (familial Mediterranean fever [FMF]; mevalonate kinase deficiency [MVK]; tumor necrosis factor [TNF] receptor-associated periodic syndrome [TRAPS]; cryopyrin-..
- [Bio-tribological properties of dental prosthesis made of nitriding titanium alloy material]Hong Li
Department of Orthodontics, West China College of Stomatology, Sichuan University, Chengdu 610041, China
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 21:261-3. 2004..The results demonstrate that after being treated with nitriding technique the titanium alloy material (TC4) has better tribological behavior and up-graded wear resistance. The wear mechanism involves adhesion...
- Hydrogen-mediated aldol reductive coupling of vinyl ketones catalyzed by rhodium: high syn-selectivity through the effect of tri-2-furylphosphineCheol Kyu Jung
University of Texas at Austin, Department of Chemistry and Biochemistry, Austin, Texas 78712, USA
Org Lett 8:519-22. 2006..Hydrogen-labile functional groups, including alkynes, alkenes, benzylic ethers, and nitroarenes, remain intact under the coupling conditions...
- Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndromeTakahisa Mizuno
Department of Pediatrics and Developmental Medicine, Gunma University Graduate School of Medicine, 3 39 15 Showa Machi, Maebashi, Gunma 371 8511, Japan
Rheumatol Int 32:3761-4. 2012..b>Mevalonate kinase (MK) activity was deficient in all of them, and analysis of the MVK gene revealed compound heterozygosity ..
- [Cloning and analysis of mevalonate kinase (PnMVK1) gene in Panax notoginseng]Xu Guo
National Engineering Laboratory for Breeding of Endangered Medicinal Materials, Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences and Peking Union Medical, Beijing 100193, China
Yao Xue Xue Bao 47:1092-7. 2012b>Mevalonate kinase (MVK) is a key enzyme in plant terpenoid biosynthetic pathway. This study focused on cloning and analysis of Panax notoginseng (Burk.) F. H. Chen MVK (PnMVK1) gene. After searching the transcriptome dataset of P...
- Morita-Baylis-Hillman and Rauhut-Currier reactions of conjugated nitroalkenesKirandeep Kaur
Department of Chemistry Indian Institute of Technology Bombay Mumbai, India
Chimia (Aarau) 66:913-20. 2012....
- Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritisAnne Hinks
Arthritis Research UK Epidemiology Unit, Stopford Building, The University of Manchester, Manchester Academic Health Science Centre, School of Translational Medicine, Oxford Road, Manchester M13 9PT, UK
Pediatr Rheumatol Online J 11:14. 2013..To investigate the autoinflammatory hereditary periodic fever syndrome genes MVK and TNFRSF1A, and the NLRP1 and IL1 genes, for association with juvenile idiopathic arthritis (JIA)...
- A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumabElena Tsitsami
Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children s Hospital Aghia Sophia, University of Athens, 115 27 Athens, Greece
Case Rep Rheumatol 2013:795027. 2013..D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected...
- Emissions of putative isoprene oxidation products from mango branches under abiotic stressKolby J Jardine
Climate Science Department, Earth Science Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Rd, Building 64, Room 241, Berkeley, CA 94720, USA
J Exp Bot 64:3697-708. 2013..These observations highlight the need to investigate further the mechanisms of isoprene oxidation within plants under stress and its biological and atmospheric significance...
- Note: Absolute photoionization cross-section of the vinyl radicalJohn D Savee
Combustion Research Facility, Mail Stop 9055, Sandia National Laboratories, Livermore, California 94551 0969, USA
J Chem Phys 139:056101. 2013..013 eV) = (4.7 ± 1.1) Mb, σvinyl(10.513 eV) = (9.0 ± 2.1) Mb, and σvinyl(10.813 eV) = (12.1 ± 2.9) Mb, define a photoionization cross-section that is ∼1.7 times smaller than a previous determination of this value. ..
- Identification of stable cytotoxic factors in the gas phase extract of cigarette smoke and pharmacological characterization of their cytotoxicityYoichi Noya
Central Institute of Isotope Science, Hokkaido University, North 15, West 7, Kita ku, Sapporo 060 8638, Japan
Toxicology 314:1-10. 2013....
- Regulation of LH receptor mRNA binding protein by miR-122 in rat ovariesBindu Menon
6428 Medical Sciences Building I, 1301 Catherine Street, Ann Arbor, MI 48109 0617
Endocrinology 154:4826-34. 2013..regulated by the RNA binding protein, (LHR mRNA binding protein [LRBP]), which has been identified as being mevalonate kinase. This study examined the role of microRNA miR-122 in LRBP-mediated LHR mRNA expression...
- Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosaAnna M Siemiatkowska
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
Ophthalmology 120:2697-705. 2013..Despite extensive knowledge about genes involved in the pathogenesis of RP, the genetic cause remains elusive in many patients. In this study, we aimed to identify novel genes that are involved in the cause of RP...
- A mechanistic approach to modelling the risk of liver tumours in mice exposed to fumonisin B1 in the dietR L Kodell
National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR 72079, USA
Food Addit Contam 18:237-53. 2001..The model was able to reproduce reasonably well the observed tumour rates in both female and male mice, predicting substantially increased rates above background only at the highest doses of fumonisin B1 in females...
- A novel mechanism for the modulation of luteinizing hormone receptor mRNA expression in the rat ovaryH Peegel
Department of Obstetrics and Gynecology, 6428 Medical Science I, 1150 West Medical Center Drive, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Mol Cell Endocrinol 233:65-72. 2005..Our previous studies have shown that a ovarian cytosolic protein, designated as LHR mRNA binding protein (LRBP) is an important regulator of the steady state levels of LHR expression...
- Regulation of luteinizing hormone receptor expression: evidence of translational suppression in vitro by a hormonally regulated mRNA-binding protein and its endogenous association with luteinizing hormone receptor mRNA in the ovaryAnil K Nair
Department of Obstetrics Gynecology, University of Michigan Medical School, Ann Arbor, Michigan 48109 0617, USA
J Biol Chem 280:42809-16. 2005..The identity of LRBP was later established as mevalonate kinase (MVK). The present study examined if LRBP binding to LHR mRNA impairs translation...
- A novel post-transcriptional mechanism of regulation of luteinizing hormone receptor expression by an RNA binding protein from the ovaryK M J Menon
Department of Obstetrics Gynecology, University of Michigan Medical Center, Ann Arbor, MI 48109 0617, USA
Mol Cell Endocrinol 246:135-41. 2006..LRBP was purified to homogeneity and its identity was established as mevalonate kinase by N-terminal microsequencing and MALDI analysis...
- AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two casesHelen J Lachmann
Royal Free and University College Medical School, London, UK
Arthritis Rheum 54:2010-4. 2006..We report 2 further cases of patients with AA amyloidosis in HIDS, both of whom developed dialysis-dependent renal failure, and we describe the outcome of the first renal transplant in this setting...
- Structure-toxicity analysis of type-2 alkenes: in vitro neurotoxicityRichard M LoPachin
Department of Anesthesiology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York 10467, USA
Toxicol Sci 95:136-46. 2007..This is consistent with our hypothesis that the mechanism of ACR neurotoxicity involves formation of Michael adducts with protein sulfhydryl groups...
- Ruthenium-Lewis acid catalyzed asymmetric Diels-Alder reactions between dienes and alpha,beta-unsaturated ketonesJenny Rickerby
Department of Organic Chemistry, Sciences II, University of Geneva, 30 Quai Ernest Ansermet, CH1211, Geneva 4, Switzerland
Chemistry 13:3354-68. 2007..Crystal structure determinations of [Ru(Cp)((S,S)-BIPHOP-F)(mvk)][SbF(6)], (S,S)-1 b, and [Ru(Cp)((R,R)-Me(4)BIPHOP-F)(acrolein)][SbF(6)], (R,R)-2 b, provided the basis for a rationalization of the asymmetric induction...
- Methyl vinyl ketone induces apoptosis in murine GT1-7 hypothalamic neurons through glutathione depletion and the generation of reactive oxygen speciesK Sathishkumar
Department of Environmental Toxicology and The Health Research Center, Southern University and A and M College, Baton Rouge, LA 70813, USA
Free Radic Res 41:469-77. 2007..The suggested sequence of events in the MVK-induced apoptosis in neuronal cells involves the depletion of cellular glutathione followed by an increased generation of ROS and finally the loss of mitochondrial function...
- [MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]Takuya Naruto
Department of Pediatrics, Yokohama City, University School of Medicine
Nihon Rinsho Meneki Gakkai Kaishi 30:86-9. 2007..HIDS caused by mevalonate kinase (MK) mutations, also that is the gene of mevalonic aciduria (OMIM 251170)...
- Incretin receptors for glucagon-like peptide 1 and glucose-dependent insulinotropic polypeptide are essential for the sustained metabolic actions of vildagliptin in miceGrace Flock
Samuel Lunenfeld Research Institute, Department of Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada
Diabetes 56:3006-13. 2007....
- JAIRAM K M MENON; Fiscal Year: 2016..Aim 3 will examine the functional consequences of granulosa cell-specific deletion of LRBP (mevalonate kinase) gene (cKO) on ovarian function...
- Alfred L Fisher; Fiscal Year: 2016..We have found that mvk-1, which is the worm homolog of the mevalonate kinase gene, is required for this delay...
- Murine Knockout Model of Mevalonic AciduriaK Michael Gibson; Fiscal Year: 2009DESCRIPTION (from the application): Mevalonate kinase (MvK) catalyzes the first committed step in cholesterol and isoprene synthesis, and is the site of two human enzyme deficiencies, severe mevalonic aciduria (MA) and ..
- New Innovative Approaches for CarcinogenesisWai Yuan Tan; Fiscal Year: 2005..We will also develop procedures to predict and estimate the state variables to validate the model and to predict future cancer cases. ..
- GLUTATHIONE AND MITOCHONDRIA IN TOXIC RENAL INJURYLawrence Lash; Fiscal Year: 2003..This information may have therapeutic applications for prevention of renal cellular injury or for understanding mitochondrial diseases or age-related decreases that occur in mitochondrial function. ..
- SYNTHESIS OF THE TEDANOLIDES, CYTOTOXIC POLYPROPIONATESMichael Jung; Fiscal Year: 2003....
- MOLECULAR TOXICOLOGY IN HUMAN KIDNEY CELLSLawrence Lash; Fiscal Year: 2007..Achievement of these aims should build on our previous work in human kidney cells and extend it to provide a much more complete understanding of the various and complex ways in which DCVC affects the human kidney [unreadable] [unreadable]..
- Synthesis of Macrolides, Steroids, Cyclopentanoids, etc.BARRY TROST; Fiscal Year: 2009..These new synthetic methods apply to many structural types beyond those illustrated and constitutes a significant to gain access to complex molecular targets more easily. ..
- MOLECULAR MECHANISMS OF HEXACARBON-INDUCED AXON ATROPHYRICHARD LOPACHIN; Fiscal Year: 2009..Understanding the role and mechanism of axon atrophy in solvent neurotoxicity has broad-based implications for human occupational health and risk assessment. ..